A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568880



Internal ID18350392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84971677..84977537hg38UCSC Ensembl
Innerchr3:85020828..85026688hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg385861
hg195861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1388e212
Supporting Variantsessv9767398, essv9767399
Samples401797LS, 401105WS
Known GenesCADM2
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3568880
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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